Condition: Hyperimmunoglobulinemia D


rs104895295 in MMAB;MVK gene and Hyperimmunoglobulinemia D PMID 11313769 2001 Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

PMID 11313768 2001 Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 15536479 2005 MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

PMID 10369262 1999 Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

PMID 10369261 1999 Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 12563048 2003 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

PMID 16835861 2006 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

rs104895296 in MVK gene and Hyperimmunoglobulinemia D PMID 11313768 2001 Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 10369261 1999 Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 10369262 1999 Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

PMID 15536479 2005 MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

PMID 11313769 2001 Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

PMID 19011501 2008 Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

PMID 10401001 1999 Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

PMID 10417275 1999 Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 27142780 2016 Natural history of mevalonate kinase deficiency: a literature review.

PMID 27213830 2016 The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

PMID 24470648 2014 Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.

PMID 24084495 2013 Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

PMID 21425920 2011 Perinatal onset mevalonate kinase deficiency.

PMID 23692791 2014 Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.

PMID 26116953 2016 Treatment of adult hyper-IgD syndrome with canakinumab.

PMID 19786432 2009 Differentiating PFAPA syndrome from monogenic periodic fevers.

PMID 16435210 2005 Retinitis pigmentosa in mevalonate kinase deficiency.

PMID 9334262 1997 Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.

PMID 28095071 2017 Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.

PMID 12563048 2003 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

PMID 16835861 2006 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

PMID 11111075 2000 Biochemical and genetic aspects of mevalonate kinase and its deficiency.

PMID 20194276 2010 A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.

PMID 23979089 2013 Severe early-onset colitis revealing mevalonate kinase deficiency.

PMID 21548022 2011 Significant liver disease in a patient with Y116H mutation in the MVK gene.

PMID 24177804 2014 Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.

PMID 12634869 2003 The most frequently occurring MVK mutation, V377I (1129G>A), has been identified exclusively in HIDS patients.

PMID 22038276 2012 Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 24233262 2014 Clinical and genetic profile of children with periodic fever syndromes from a single medical center in South East Michigan.

PMID 25866490 2015 Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

PMID 25708585 2015 Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred.

PMID 24360083 2013 Weekly oral alendronate in mevalonate kinase deficiency.

PMID 24561416 2014 Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome.

PMID 26977311 2016 Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).